Language:

Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome

Medicine (Baltimore), 2018-12, Vol.97 (50), p.e13617-e13617 [Peer Reviewed Journal]

Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. 2018 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000013617 ;PMID: 30558042

Full text available

Actions
1. Add to My Research
2. Remove from My Research
3. E-mail
4. Print
5. Permalink
6. Citation
7. EasyBib
8. EndNote
9. RefWorks
10. Delicious
11. Export RIS
12. Export BibTeX

Title:
Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome
Author: Cai, Meiying ; Huang, Hailong ; Su, Linjuan ; Lin, Na ; Wu, Xiaoqing ; Xie, Xiaorui ; An, Gang ; Li, Ying ; Lin, Yuan ; Xu, Liangpu
Subjects: China - epidemiology ; Chromosome Aberrations ; Clinical Trial/Experimental Study ; Cytogenetic Analysis - methods ; DNA Copy Number Variations - genetics ; Echocardiography - methods ; Female ; Fetal Diseases - diagnosis ; Fetal Diseases - epidemiology ; Fetal Diseases - genetics ; Heart Defects, Congenital - diagnosis ; Heart Defects, Congenital - epidemiology ; Heart Defects, Congenital - etiology ; Humans ; Karyotyping - methods ; Polymorphism, Single Nucleotide - genetics ; Pregnancy ; Pregnancy Outcome - epidemiology ; Prenatal Care - methods ; Prenatal Diagnosis - methods ; Reproducibility of Results
Is Part Of: Medicine (Baltimore), 2018-12, Vol.97 (50), p.e13617-e13617
Description: Congenital heart disease (CHD) is one of the most common birth defects; however, the mechanisms underlying its development are poorly understood. Recently, heritable genetic factors, including copy number variations (CNVs) and single nucleotide polymorphisms (SNPs), have been implicated in its etiology. The aim of this study was to investigate the utility of a SNP array for the prenatal diagnosis of CHD and the improvement of prenatal genetic counseling and to compare this approach to traditional chromosome analysis. One hundred and fortysix cases of CHD detected by prenatal echocardiography were analyzed. Of these, 110 were isolated CHD and 36 were of CHD with extracardiac defects. SNP analysis was performed using the Affymetrix CytoScan HD platform, which was followed by karyotype analysis. All annotated CNVs were validated by fluorescence in situ hybridization. Karyotype analysis identified chromosomal abnormalities in 19 of 146 cases. In addition to the 15 chromosomal abnormalities that were consistent with the results of karyotype analysis, the SNP array identified abnormal CNVs in an additional 15.2% (22/145) cases; of these, 15 were pathogenic CNVs, three were variations of uncertain clinical significance, and four were benign CNVs. The rates at which the SNP array detected pathogenic CNVs differed significantly between cases of isolated CHD and CHD with extracardiac defects (13.6% vs. 72.2%, P = .001). The results of the SNP array also affected the rate of pregnancy termination. Combining SNP array with cytogenetic analyses is particularly effective for identifying chromosomal abnormalities in CNVs in fetuses with CHD, which also affects obstetrical outcomes.
Publisher: United States: Wolters Kluwer Health
Language: English
Identifier: ISSN: 0025-7974
EISSN: 1536-5964
DOI: 10.1097/MD.0000000000013617
PMID: 30558042
Source: Journals@Ovid Open Access Journal Collection Rolling
IngentaConnect Backfiles
MEDLINE
PubMed Central
Wolters Kluwer Open Access
DOAJ Directory of Open Access Journals

Back to results list


INSPIRE LIBRARY - TON DUC THANG UNIVERSITY	(84-028) 37 755 057	Feedback
19 Nguyen Huu Tho St. Dist.7, HCM	thuvien@tdtu.edu.vn	Feedback

Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome

Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. 2018 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000013617 ;PMID: 30558042

Searching Remote Databases, Please Wait